Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

L González-MeraG RavenscroftM Cabrera-SerranoN ErmolovaC Domínguez-GonzálezA Arteche-LópezP SoltanzadehF EvessonC NavasF MavillardJ ClaytonP RodrigoE Servián-MorillaS T CooperL WaddellK ReardonA CorbettAurelio Hernández-LainA SanchezJ Esteban PerezC Paradas-LopezE Rivas-InfanteM SpencerN LaingMontse Olivé

Published in: Neuropathology and applied neurobiology (2020)

We expand the genotypic spectrum of CAPN3-associated muscular dystrophy due to autosomal dominant missense variants.

Keyphrases

muscular dystrophy
copy number
intellectual disability
duchenne muscular dystrophy
early onset
autism spectrum disorder
cord blood
gene expression
dna methylation